Incidental Mutation 'IGL02935:Nicn1'
ID |
364276 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nicn1
|
Ensembl Gene |
ENSMUSG00000032606 |
Gene Name |
nicolin 1 |
Synonyms |
1500032A17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
IGL02935
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
108167642-108173697 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108167845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 39
(N39S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035227]
|
AlphaFold |
Q9CQM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035227
AA Change: N39S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192035
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195695
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
G |
A |
13: 54,709,675 (GRCm39) |
P13L |
possibly damaging |
Het |
A930016O22Rik |
A |
T |
7: 19,154,338 (GRCm39) |
|
probably benign |
Het |
Ajuba |
A |
G |
14: 54,807,924 (GRCm39) |
F436S |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,971,625 (GRCm39) |
A961S |
probably damaging |
Het |
Brca1 |
A |
G |
11: 101,380,693 (GRCm39) |
V1780A |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,643,215 (GRCm39) |
L1043S |
probably damaging |
Het |
Cngb3 |
T |
A |
4: 19,425,491 (GRCm39) |
M433K |
possibly damaging |
Het |
Col4a1 |
T |
C |
8: 11,269,166 (GRCm39) |
D928G |
probably damaging |
Het |
Colq |
G |
A |
14: 31,257,591 (GRCm39) |
P259S |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,273,348 (GRCm39) |
Y828C |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,520,514 (GRCm39) |
R448G |
possibly damaging |
Het |
Dip2c |
A |
G |
13: 9,712,182 (GRCm39) |
D1435G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,225,926 (GRCm39) |
L1188* |
probably null |
Het |
Duox1 |
G |
T |
2: 122,155,000 (GRCm39) |
G462C |
possibly damaging |
Het |
Flcn |
A |
T |
11: 59,686,062 (GRCm39) |
I402N |
possibly damaging |
Het |
Fuca2 |
G |
A |
10: 13,383,063 (GRCm39) |
E344K |
probably null |
Het |
Golim4 |
T |
C |
3: 75,802,299 (GRCm39) |
H331R |
possibly damaging |
Het |
Grid1 |
A |
T |
14: 34,544,515 (GRCm39) |
I29F |
possibly damaging |
Het |
Hltf |
T |
A |
3: 20,123,215 (GRCm39) |
F201Y |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,691,339 (GRCm39) |
I677N |
probably benign |
Het |
Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
Meox2 |
A |
T |
12: 37,159,104 (GRCm39) |
H92L |
probably damaging |
Het |
Mlec |
C |
A |
5: 115,295,873 (GRCm39) |
R74L |
probably benign |
Het |
Mrpl58 |
G |
A |
11: 115,301,054 (GRCm39) |
|
probably benign |
Het |
Mtch1 |
T |
C |
17: 29,555,184 (GRCm39) |
D288G |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,582,990 (GRCm39) |
E1090G |
probably benign |
Het |
Nlrp9c |
A |
G |
7: 26,084,701 (GRCm39) |
S293P |
probably benign |
Het |
Or2bd2 |
G |
A |
7: 6,443,753 (GRCm39) |
V285M |
possibly damaging |
Het |
Or51b4 |
T |
C |
7: 103,530,871 (GRCm39) |
N193S |
probably damaging |
Het |
Or5al1 |
G |
T |
2: 85,990,714 (GRCm39) |
|
probably benign |
Het |
Pcdh20 |
T |
A |
14: 88,704,438 (GRCm39) |
|
probably benign |
Het |
Peg3 |
C |
A |
7: 6,714,128 (GRCm39) |
V365F |
probably damaging |
Het |
Penk |
A |
G |
4: 4,133,843 (GRCm39) |
F268S |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,603,300 (GRCm39) |
Y116N |
probably damaging |
Het |
Prex1 |
C |
A |
2: 166,412,265 (GRCm39) |
G389C |
probably damaging |
Het |
Ptch2 |
C |
T |
4: 116,971,967 (GRCm39) |
A1163V |
probably damaging |
Het |
Rasgrp3 |
G |
A |
17: 75,804,065 (GRCm39) |
V123I |
probably benign |
Het |
Slc36a2 |
G |
T |
11: 55,060,854 (GRCm39) |
N185K |
possibly damaging |
Het |
Sox9 |
G |
T |
11: 112,676,175 (GRCm39) |
G455C |
probably damaging |
Het |
St6galnac1 |
G |
T |
11: 116,660,171 (GRCm39) |
D47E |
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,415 (GRCm39) |
D271V |
probably damaging |
Het |
Top3a |
A |
T |
11: 60,653,354 (GRCm39) |
I85K |
possibly damaging |
Het |
Ttll8 |
T |
A |
15: 88,798,759 (GRCm39) |
M659L |
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,988,112 (GRCm39) |
R656C |
probably damaging |
Het |
|
Other mutations in Nicn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R7148:Nicn1
|
UTSW |
9 |
108,172,306 (GRCm39) |
makesense |
probably null |
|
R8121:Nicn1
|
UTSW |
9 |
108,172,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Nicn1
|
UTSW |
9 |
108,170,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Nicn1
|
UTSW |
9 |
108,170,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R8925:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8927:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8937:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8951:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8962:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8965:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8967:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8987:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8988:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9079:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9145:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9148:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9245:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9246:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9248:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9249:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9253:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9254:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9255:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9272:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9273:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9274:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9282:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9320:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9321:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9326:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9379:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9380:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9467:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9507:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9508:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9581:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9582:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9624:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9625:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9628:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9629:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2015-12-18 |